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Spermatogenic failure 53(SPGF53)

MedGen UID:
1787013
•Concept ID:
C5543253
•
Disease or Syndrome
Synonyms: SPERMATOGENIC FAILURE 53; SPGF53
 
Gene (location): ACTL9 (19p13.2)
 
Monarch Initiative: MONDO:0030989
OMIM®: 619258

Definition

Spermatogenic failure-53 (SPGF53) is characterized by oocyte fertilization failure due to lack of oocyte activation, associated with ultrastructural abnormalities of the sperm head (Dai et al., 2021). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

Clinical features

From HPO
Male infertility
MedGen UID:
5796
•Concept ID:
C0021364
•
Disease or Syndrome
The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility.
See: Feature record | Search on this feature
Tapered sperm head
MedGen UID:
1635505
•Concept ID:
C2208973
•
Finding
Sperm with cigar-shaped heads that gradually dimish in diameter (taper).
See: Feature record | Search on this feature

Professional guidelines

PubMed

Whole exome sequencing analysis of 167 men with primary infertility.
Zhou H, Yin Z, Ni B, Lin J, Luo S, Xie W
BMC Med Genomics 2024 Sep 12;17(1):230. doi: 10.1186/s12920-024-02005-3. PMID: 39267058Free PMC Article
In-vitro fertilization treatment for severe male factor: the fertilization potential of immotile spermatozoa obtained by testicular extraction.
Shulman A, Feldman B, Madgar I, Levron J, Mashiach S, Dor J
Hum Reprod 1999 Mar;14(3):749-52. doi: 10.1093/humrep/14.3.749. PMID: 10221708

Recent clinical studies

Etiology

Association of MSY haplotype background with nonobstructive azoospermia is AZF-dependent: A case-control study.
Seyedin A, Kazeroun MH, Namipashaki A, Qobadi-Nasr S, Zamanian M, Ansari-Pour N
Andrologia 2021 Mar;53(2):e13946. Epub 2021 Jan 1 doi: 10.1111/and.13946. PMID: 33386637
A Novel Locus Predicts Spermatogenic Recovery among Childhood Cancer Survivors Exposed to Alkylating Agents.
Sapkota Y, Wilson CL, Zaidi AK, Moon W, Fon Tacer K, Lu L, Liu Q, Baedke J, Dhaduk R, Wang Z, Chemaitilly W, Krasin MJ, Berry FB, Zhang J, Hudson MM, Robison LL, Green DM, Yasui Y
Cancer Res 2020 Sep 1;80(17):3755-3764. Epub 2020 Jun 17 doi: 10.1158/0008-5472.CAN-20-0093. PMID: 32554749Free PMC Article
Reproductive outcomes and Y chromosome instability in radiation-exposed male workers in cardiac catheterization laboratory.
Andreassi MG, Borghini A, Vecoli C, Piccaluga E, Guagliumi G, Del Greco M, Gaita F, Picano E
Environ Mol Mutagen 2020 Mar;61(3):361-368. Epub 2019 Oct 25 doi: 10.1002/em.22341. PMID: 31605552
DAZ duplications confer the predisposition of Y chromosome haplogroup K* to non-obstructive azoospermia in Han Chinese populations.
Lu C, Wang Y, Zhang F, Lu F, Xu M, Qin Y, Wu W, Li S, Song L, Yang S, Wu D, Jin L, Shen H, Sha J, Xia Y, Hu Z, Wang X
Hum Reprod 2013 Sep;28(9):2440-9. Epub 2013 May 21 doi: 10.1093/humrep/det234. PMID: 23696539
Association of partial AZFc region deletions with spermatogenic impairment and male infertility.
Ferlin A, Tessari A, Ganz F, Marchina E, Barlati S, Garolla A, Engl B, Foresta C
J Med Genet 2005 Mar;42(3):209-13. doi: 10.1136/jmg.2004.025833. PMID: 15744033Free PMC Article

Diagnosis

Whole exome sequencing analysis of 167 men with primary infertility.
Zhou H, Yin Z, Ni B, Lin J, Luo S, Xie W
BMC Med Genomics 2024 Sep 12;17(1):230. doi: 10.1186/s12920-024-02005-3. PMID: 39267058Free PMC Article
A Novel Locus Predicts Spermatogenic Recovery among Childhood Cancer Survivors Exposed to Alkylating Agents.
Sapkota Y, Wilson CL, Zaidi AK, Moon W, Fon Tacer K, Lu L, Liu Q, Baedke J, Dhaduk R, Wang Z, Chemaitilly W, Krasin MJ, Berry FB, Zhang J, Hudson MM, Robison LL, Green DM, Yasui Y
Cancer Res 2020 Sep 1;80(17):3755-3764. Epub 2020 Jun 17 doi: 10.1158/0008-5472.CAN-20-0093. PMID: 32554749Free PMC Article
The presence of germ cells in the semen of azoospermic, cryptozoospermic and severe oligozoospermic patients: stringent flow cytometric analysis and correlations with hormonal status.
Yeung CH, Beiglböck-Karau L, Tüttelmann F, Nieschlag E
Clin Endocrinol (Oxf) 2007 Nov;67(5):767-75. Epub 2007 Jul 4 doi: 10.1111/j.1365-2265.2007.02961.x. PMID: 17610519
Defining regions of the Y-chromosome responsible for male infertility and identification of a fourth AZF region (AZFd) by Y-chromosome microdeletion detection.
Kent-First M, Muallem A, Shultz J, Pryor J, Roberts K, Nolten W, Meisner L, Chandley A, Gouchy G, Jorgensen L, Havighurst T, Grosch J
Mol Reprod Dev 1999 May;53(1):27-41. doi: 10.1002/(SICI)1098-2795(199905)53:1<27::AID-MRD4>3.0.CO;2-W. PMID: 10230814

Therapy

Microdissection testicular sperm extraction (micro-TESE) in men with infertility due to nonobstructive azoospermia: summary of current literature.
Achermann APP, Pereira TA, Esteves SC
Int Urol Nephrol 2021 Nov;53(11):2193-2210. Epub 2021 Aug 19 doi: 10.1007/s11255-021-02979-4. PMID: 34410586
A Novel Locus Predicts Spermatogenic Recovery among Childhood Cancer Survivors Exposed to Alkylating Agents.
Sapkota Y, Wilson CL, Zaidi AK, Moon W, Fon Tacer K, Lu L, Liu Q, Baedke J, Dhaduk R, Wang Z, Chemaitilly W, Krasin MJ, Berry FB, Zhang J, Hudson MM, Robison LL, Green DM, Yasui Y
Cancer Res 2020 Sep 1;80(17):3755-3764. Epub 2020 Jun 17 doi: 10.1158/0008-5472.CAN-20-0093. PMID: 32554749Free PMC Article
Reproductive outcomes and Y chromosome instability in radiation-exposed male workers in cardiac catheterization laboratory.
Andreassi MG, Borghini A, Vecoli C, Piccaluga E, Guagliumi G, Del Greco M, Gaita F, Picano E
Environ Mol Mutagen 2020 Mar;61(3):361-368. Epub 2019 Oct 25 doi: 10.1002/em.22341. PMID: 31605552

Prognosis

A Novel Locus Predicts Spermatogenic Recovery among Childhood Cancer Survivors Exposed to Alkylating Agents.
Sapkota Y, Wilson CL, Zaidi AK, Moon W, Fon Tacer K, Lu L, Liu Q, Baedke J, Dhaduk R, Wang Z, Chemaitilly W, Krasin MJ, Berry FB, Zhang J, Hudson MM, Robison LL, Green DM, Yasui Y
Cancer Res 2020 Sep 1;80(17):3755-3764. Epub 2020 Jun 17 doi: 10.1158/0008-5472.CAN-20-0093. PMID: 32554749Free PMC Article

Clinical prediction guides

Association of MSY haplotype background with nonobstructive azoospermia is AZF-dependent: A case-control study.
Seyedin A, Kazeroun MH, Namipashaki A, Qobadi-Nasr S, Zamanian M, Ansari-Pour N
Andrologia 2021 Mar;53(2):e13946. Epub 2021 Jan 1 doi: 10.1111/and.13946. PMID: 33386637
Testicular quantitative ultrasound: A noninvasive monitoring method for evaluating spermatogenic function in busulfan-induced testicular injury mouse models.
Huang WL, Ding L, Yao JH, Hu HT, Gao Y, Xie XY, Lu MD, Deng CH, Xie Y, Wang Z
Andrologia 2021 Mar;53(2):e13927. Epub 2020 Dec 23 doi: 10.1111/and.13927. PMID: 33355959
A Novel Locus Predicts Spermatogenic Recovery among Childhood Cancer Survivors Exposed to Alkylating Agents.
Sapkota Y, Wilson CL, Zaidi AK, Moon W, Fon Tacer K, Lu L, Liu Q, Baedke J, Dhaduk R, Wang Z, Chemaitilly W, Krasin MJ, Berry FB, Zhang J, Hudson MM, Robison LL, Green DM, Yasui Y
Cancer Res 2020 Sep 1;80(17):3755-3764. Epub 2020 Jun 17 doi: 10.1158/0008-5472.CAN-20-0093. PMID: 32554749Free PMC Article
Partial microdeletions in the Y-chromosome AZFc region are not a significant risk factor for spermatogenic impairment in Tunisian infertile men.
Ghorbel M, Gargouri SB, Zribi N, Abdallah FB, Cherif M, Keskes R, Chakroun N, Sellami A, McElreavey K, Fakhfakh F, Ammar-Keskes L
Genet Test Mol Biomarkers 2012 Jul;16(7):775-9. Epub 2012 Jun 25 doi: 10.1089/gtmb.2012.0024. PMID: 22731643
Testicular expression of survivin and human telomerase reverse transcriptase (hTERT) associated with spermatogenic function in infertile patients.
Weikert S, Christoph F, Schulze W, Krause H, Kempkensteffen C, Schostak M, Miller K, Schrader M
Asian J Androl 2006 Jan;8(1):95-100. doi: 10.1111/j.1745-7262.2006.00102.x. PMID: 16372125

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